Publications
- Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency2012 | First Faculty of Medicine
- Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I2011 | First Faculty of Medicine
- A new case of ALG8 deficiency (CDG Ih)2009 | First Faculty of Medicine, Third Faculty of Medicine
- Girl with congenital disorder of glycosylation - case report2009 | First Faculty of Medicine
- Coagulation abnormalities and thrombotic complications in congenital disorders of glycosylation type IAPublication without faculty affiliation
- Congenital disorders of glycosylation (CDG Syndrome) in fourteen children with psychomotor delay, hypotonia, strabismus and other various organ involvement +1Publication without faculty affiliation
- Molecular characterization of a novel His333Arg variant of human protoporphyrinogen oxidase IX2022 | First Faculty of Medicine
- Iron Complexes of Flavonoids-Antioxidant Capacity and Beyond2021 | First Faculty of Medicine
- Activity of phosphomannomutase 2 in patients with suspected congenital disorder of glycosylation2016 | First Faculty of Medicine
- High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase2015 | First Faculty of Medicine
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